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Protein

Sodium channel protein type 3 subunit alpha

Gene

SCN3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.

GO - Molecular functioni

  • voltage-gated sodium channel activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153253-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 3 subunit alpha
Alternative name(s):
Sodium channel protein brain III subunit alpha
Sodium channel protein type III subunit alpha
Voltage-gated sodium channel subtype III
Voltage-gated sodium channel subunit alpha Nav1.3
Gene namesi
Name:SCN3A
Synonyms:KIAA1356, NAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10590. SCN3A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 123CytoplasmicSequence analysisAdd BLAST123
Transmembranei124 – 147Helical; Name=S1 of repeat ISequence analysisAdd BLAST24
Topological domaini148 – 155ExtracellularSequence analysis8
Transmembranei156 – 175Helical; Name=S2 of repeat ISequence analysisAdd BLAST20
Topological domaini176 – 188CytoplasmicSequence analysisAdd BLAST13
Transmembranei189 – 207Helical; Name=S3 of repeat ISequence analysisAdd BLAST19
Topological domaini208 – 213ExtracellularSequence analysis6
Transmembranei214 – 233Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd BLAST20
Topological domaini234 – 248CytoplasmicSequence analysisAdd BLAST15
Transmembranei249 – 273Helical; Name=S5 of repeat ISequence analysisAdd BLAST25
Topological domaini274 – 400ExtracellularSequence analysisAdd BLAST127
Transmembranei401 – 426Helical; Name=S6 of repeat ISequence analysisAdd BLAST26
Topological domaini427 – 754CytoplasmicSequence analysisAdd BLAST328
Transmembranei755 – 779Helical; Name=S1 of repeat IISequence analysisAdd BLAST25
Topological domaini780 – 790ExtracellularSequence analysisAdd BLAST11
Transmembranei791 – 814Helical; Name=S2 of repeat IISequence analysisAdd BLAST24
Topological domaini815 – 822CytoplasmicSequence analysis8
Transmembranei823 – 842Helical; Name=S3 of repeat IISequence analysisAdd BLAST20
Topological domaini843 – 848ExtracellularSequence analysis6
Transmembranei849 – 869Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd BLAST21
Topological domaini870 – 884CytoplasmicSequence analysisAdd BLAST15
Transmembranei885 – 905Helical; Name=S5 of repeat IISequence analysisAdd BLAST21
Topological domaini906 – 958ExtracellularSequence analysisAdd BLAST53
Transmembranei959 – 984Helical; Name=S6 of repeat IISequence analysisAdd BLAST26
Topological domaini985 – 1201CytoplasmicSequence analysisAdd BLAST217
Transmembranei1202 – 1225Helical; Name=S1 of repeat IIISequence analysisAdd BLAST24
Topological domaini1226 – 1238ExtracellularSequence analysisAdd BLAST13
Transmembranei1239 – 1264Helical; Name=S2 of repeat IIISequence analysisAdd BLAST26
Topological domaini1265 – 1270CytoplasmicSequence analysis6
Transmembranei1271 – 1292Helical; Name=S3 of repeat IIISequence analysisAdd BLAST22
Topological domaini1293 – 1296ExtracellularSequence analysis4
Transmembranei1297 – 1318Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd BLAST22
Topological domaini1319 – 1337CytoplasmicSequence analysisAdd BLAST19
Transmembranei1338 – 1359Helical; Name=S5 of repeat IIISequence analysisAdd BLAST22
Topological domaini1360 – 1441ExtracellularSequence analysisAdd BLAST82
Transmembranei1442 – 1468Helical; Name=S6 of repeat IIISequence analysisAdd BLAST27
Topological domaini1469 – 1521CytoplasmicSequence analysisAdd BLAST53
Transmembranei1522 – 1545Helical; Name=S1 of repeat IVSequence analysisAdd BLAST24
Topological domaini1546 – 1556ExtracellularSequence analysisAdd BLAST11
Transmembranei1557 – 1580Helical; Name=S2 of repeat IVSequence analysisAdd BLAST24
Topological domaini1581 – 1586CytoplasmicSequence analysis6
Transmembranei1587 – 1610Helical; Name=S3 of repeat IVSequence analysisAdd BLAST24
Topological domaini1611 – 1620ExtracellularSequence analysis10
Transmembranei1621 – 1642Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd BLAST22
Topological domaini1643 – 1657CytoplasmicSequence analysisAdd BLAST15
Transmembranei1658 – 1680Helical; Name=S5 of repeat IVSequence analysisAdd BLAST23
Topological domaini1681 – 1746ExtracellularSequence analysisAdd BLAST66
Transmembranei1747 – 1771Helical; Name=S6 of repeat IVSequence analysisAdd BLAST25
Topological domaini1772 – 2000CytoplasmicSequence analysisAdd BLAST229

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1970Y → A: Abolishes interaction with NEDD4L. 1 Publication1

Organism-specific databases

DisGeNETi6328.
OpenTargetsiENSG00000153253.
PharmGKBiPA35005.

Chemistry databases

ChEMBLiCHEMBL5163.
DrugBankiDB06218. Lacosamide.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi580.

Polymorphism and mutation databases

BioMutaiSCN3A.
DMDMi25014054.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000484931 – 2000Sodium channel protein type 3 subunit alphaAdd BLAST2000

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi211N-linked (GlcNAc...)Sequence analysis1
Glycosylationi290N-linked (GlcNAc...)Sequence analysis1
Glycosylationi296N-linked (GlcNAc...)Sequence analysis1
Glycosylationi302N-linked (GlcNAc...)Sequence analysis1
Glycosylationi307N-linked (GlcNAc...)Sequence analysis1
Glycosylationi339N-linked (GlcNAc...)Sequence analysis1
Modified residuei484PhosphoserineBy similarity1
Modified residuei485PhosphoserineBy similarity1
Modified residuei486PhosphoserineBy similarity1
Glycosylationi1366N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1380N-linked (GlcNAc...)Sequence analysis1
Modified residuei1501Phosphoserine; by PKCBy similarity1

Post-translational modificationi

May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ9NY46.
PeptideAtlasiQ9NY46.
PRIDEiQ9NY46.

PTM databases

iPTMnetiQ9NY46.
PhosphoSitePlusiQ9NY46.

Expressioni

Gene expression databases

BgeeiENSG00000153253.
CleanExiHS_SCN3A.
ExpressionAtlasiQ9NY46. baseline and differential.
GenevisibleiQ9NY46. HS.

Organism-specific databases

HPAiHPA035396.

Interactioni

Subunit structurei

The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L.1 Publication

Protein-protein interaction databases

BioGridi112233. 6 interactors.
IntActiQ9NY46. 2 interactors.
MINTiMINT-8330038.
STRINGi9606.ENSP00000283254.

Chemistry databases

BindingDBiQ9NY46.

Structurei

3D structure databases

ProteinModelPortaliQ9NY46.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati110 – 455ICuratedAdd BLAST346
Repeati742 – 1014IICuratedAdd BLAST273
Repeati1188 – 1499IIICuratedAdd BLAST312
Repeati1508 – 1806IVCuratedAdd BLAST299
Domaini1900 – 1929IQPROSITE-ProRule annotationAdd BLAST30

Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Contains 1 IQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9NY46.
KOiK04836.
OMAiYFNGTMD.
OrthoDBiEOG091G00FK.
PhylomeDBiQ9NY46.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Exons 6A and 6N only differ by a single residue.
Isoform 1 (identifier: Q9NY46-1) [UniParc]FASTAAdd to basket
Also known as: 6A-12+12b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK
60 70 80 90 100
PNSDLEAGKN LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF
110 120 130 140 150
RFSATSALYI LTPLNPVRKI AIKILVHSLF SMLIMCTILT NCVFMTLSNP
160 170 180 190 200
PDWTKNVEYT FTGIYTFESL IKILARGFCL EDFTFLRDPW NWLDFSVIVM
210 220 230 240 250
AYVTEFVSLG NVSALRTFRV LRALKTISVI PGLKTIVGAL IQSVKKLSDV
260 270 280 290 300
MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD
310 320 330 340 350
SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY
360 370 380 390 400
ICVKAGRNPN YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY
410 420 430 440 450
MIFFVLVIFL GSFYLVNLIL AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE
460 470 480 490 500
QLKKQQEEAQ AVAAASAASR DFSGIGGLGE LLESSSEASK LSSKSAKEWR
510 520 530 540 550
NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS MDGNRLTSDK
560 570 580 590 600
KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST
610 620 630 640 650
FEDSESRRDS LFVPHRHGER RNSNVSQASM SSRMVPGLPA NGKMHSTVDC
660 670 680 690 700
NGVVSLVGGP SALTSPTGQL PPEGTTTETE VRKRRLSSYQ ISMEMLEDSS
710 720 730 740 750
GRQRAVSIAS ILTNTMEELE ESRQKCPPCW YRFANVFLIW DCCDAWLKVK
760 770 780 790 800
HLVNLIVMDP FVDLAITICI VLNTLFMAME HYPMTEQFSS VLTVGNLVFT
810 820 830 840 850
GIFTAEMVLK IIAMDPYYYF QEGWNIFDGI IVSLSLMELG LSNVEGLSVL
860 870 880 890 900
RSFRLLRVFK LAKSWPTLNM LIKIIGNSVG ALGNLTLVLA IIVFIFAVVG
910 920 930 940 950
MQLFGKSYKE CVCKINDDCT LPRWHMNDFF HSFLIVFRVL CGEWIETMWD
960 970 980 990 1000
CMEVAGQTMC LIVFMLVMVI GNLVVLNLFL ALLLSSFSSD NLAATDDDNE
1010 1020 1030 1040 1050
MNNLQIAVGR MQKGIDYVKN KMRECFQKAF FRKPKVIEIH EGNKIDSCMS
1060 1070 1080 1090 1100
NNTGIEISKE LNYLRDGNGT TSGVGTGSSV EKYVIDENDY MSFINNPSLT
1110 1120 1130 1140 1150
VTVPIAVGES DFENLNTEEF SSESELEESK EKLNATSSSE GSTVDVVLPR
1160 1170 1180 1190 1200
EGEQAETEPE EDLKPEACFT EGCIKKFPFC QVSTEEGKGK IWWNLRKTCY
1210 1220 1230 1240 1250
SIVEHNWFET FIVFMILLSS GALAFEDIYI EQRKTIKTML EYADKVFTYI
1260 1270 1280 1290 1300
FILEMLLKWV AYGFQTYFTN AWCWLDFLIV DVSLVSLVAN ALGYSELGAI
1310 1320 1330 1340 1350
KSLRTLRALR PLRALSRFEG MRVVVNALVG AIPSIMNVLL VCLIFWLIFS
1360 1370 1380 1390 1400
IMGVNLFAGK FYHCVNMTTG NMFDISDVNN LSDCQALGKQ ARWKNVKVNF
1410 1420 1430 1440 1450
DNVGAGYLAL LQVATFKGWM DIMYAAVDSR DVKLQPVYEE NLYMYLYFVI
1460 1470 1480 1490 1500
FIIFGSFFTL NLFIGVIIDN FNQQKKKFGG QDIFMTEEQK KYYNAMKKLG
1510 1520 1530 1540 1550
SKKPQKPIPR PANKFQGMVF DFVTRQVFDI SIMILICLNM VTMMVETDDQ
1560 1570 1580 1590 1600
GKYMTLVLSR INLVFIVLFT GEFVLKLVSL RHYYFTIGWN IFDFVVVILS
1610 1620 1630 1640 1650
IVGMFLAEMI EKYFVSPTLF RVIRLARIGR ILRLIKGAKG IRTLLFALMM
1660 1670 1680 1690 1700
SLPALFNIGL LLFLVMFIYA IFGMSNFAYV KKEAGIDDMF NFETFGNSMI
1710 1720 1730 1740 1750
CLFQITTSAG WDGLLAPILN SAPPDCDPDT IHPGSSVKGD CGNPSVGIFF
1760 1770 1780 1790 1800
FVSYIIISFL VVVNMYIAVI LENFSVATEE SAEPLSEDDF EMFYEVWEKF
1810 1820 1830 1840 1850
DPDATQFIEF SKLSDFAAAL DPPLLIAKPN KVQLIAMDLP MVSGDRIHCL
1860 1870 1880 1890 1900
DILFAFTKRV LGESGEMDAL RIQMEDRFMA SNPSKVSYEP ITTTLKRKQE
1910 1920 1930 1940 1950
EVSAAIIQRN FRCYLLKQRL KNISSNYNKE AIKGRIDLPI KQDMIIDKLN
1960 1970 1980 1990 2000
GNSTPEKTDG SSSTTSPPSY DSVTKPDKEK FEKDKPEKES KGKEVRENQK
Length:2,000
Mass (Da):226,294
Last modified:November 8, 2002 - v2
Checksum:iF754A1C7D49ECB58
GO
Isoform 2 (identifier: Q9NY46-2) [UniParc]FASTAAdd to basket
Also known as: 6A-12

The sequence of this isoform differs from the canonical sequence as follows:
     625-673: Missing.

Show »
Length:1,951
Mass (Da):221,462
Checksum:iB692559143D6C8B5
GO
Isoform 3 (identifier: Q9NY46-3) [UniParc]FASTAAdd to basket
Also known as: 6N-12+12b

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D

Show »
Length:2,000
Mass (Da):226,322
Checksum:i167F971F19CC12CC
GO
Isoform 4 (identifier: Q9NY46-4) [UniParc]FASTAAdd to basket
Also known as: 6N-12

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D
     625-673: Missing.

Show »
Length:1,951
Mass (Da):221,490
Checksum:iA871C354C5535029
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti175A → V in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti175A → V in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti318Y → N in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti318Y → N in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti401M → T in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti401M → T in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti475I → V in AAK00219 (Ref. 2) Curated1
Sequence conflicti495S → G in AAK00219 (Ref. 2) Curated1
Sequence conflicti604S → G in AAK00219 (Ref. 2) Curated1
Sequence conflicti613V → E in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti613V → E in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti1060E → A in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti1060E → A in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti1163L → F in AAK00219 (Ref. 2) Curated1
Sequence conflicti1274W → R in AAC29514 (PubMed:11245985).Curated1
Sequence conflicti1274W → R in AAC29515 (PubMed:11245985).Curated1
Sequence conflicti1329V → L in AAB30530 (PubMed:9589372).Curated1
Sequence conflicti1414 – 1415AT → VS in AAC29514 (PubMed:11245985).Curated2
Sequence conflicti1414 – 1415AT → VS in AAC29515 (PubMed:11245985).Curated2
Sequence conflicti1614F → S in AAK00219 (Ref. 2) Curated1
Sequence conflicti1741 – 1743CGN → RGD in AAK00219 (Ref. 2) Curated3
Sequence conflicti1862G → C in AAK00219 (Ref. 2) Curated1
Sequence conflicti1966S → P in AAK00219 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02974343Missing .1 Publication1
Natural variantiVAR_014275606S → T.1 Publication1
Natural variantiVAR_0764351084V → I.1 PublicationCorresponds to variant rs140990288dbSNPEnsembl.1
Natural variantiVAR_0297441107V → A.Corresponds to variant rs12474273dbSNPEnsembl.1
Natural variantiVAR_0556401803D → N.Corresponds to variant rs3731762dbSNPEnsembl.1
Natural variantiVAR_0297451813L → S.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001033208S → D in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_001034625 – 673Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251507 mRNA. Translation: CAB85895.1.
AF225987 mRNA. Translation: AAK00219.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53414.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53415.1.
AC013463 Genomic DNA. Translation: AAY15072.1.
AF035685 mRNA. Translation: AAC29514.1.
AF035686 mRNA. Translation: AAC29515.1.
S69887 Genomic DNA. Translation: AAB30530.1.
AB037777 mRNA. Translation: BAA92594.1.
AF239921 mRNA. Translation: AAF44690.1.
CCDSiCCDS33312.1. [Q9NY46-3]
CCDS46440.1. [Q9NY46-2]
PIRiA54937.
RefSeqiNP_001075145.1. NM_001081676.1. [Q9NY46-4]
NP_001075146.1. NM_001081677.1. [Q9NY46-2]
NP_008853.3. NM_006922.3. [Q9NY46-3]
XP_011509912.1. XM_011511610.2. [Q9NY46-3]
XP_016860149.1. XM_017004660.1. [Q9NY46-1]
UniGeneiHs.435274.

Genome annotation databases

EnsembliENST00000283254; ENSP00000283254; ENSG00000153253. [Q9NY46-3]
ENST00000360093; ENSP00000353206; ENSG00000153253. [Q9NY46-1]
ENST00000409101; ENSP00000386726; ENSG00000153253. [Q9NY46-2]
GeneIDi6328.
KEGGihsa:6328.
UCSCiuc002ucx.4. human. [Q9NY46-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251507 mRNA. Translation: CAB85895.1.
AF225987 mRNA. Translation: AAK00219.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53414.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53415.1.
AC013463 Genomic DNA. Translation: AAY15072.1.
AF035685 mRNA. Translation: AAC29514.1.
AF035686 mRNA. Translation: AAC29515.1.
S69887 Genomic DNA. Translation: AAB30530.1.
AB037777 mRNA. Translation: BAA92594.1.
AF239921 mRNA. Translation: AAF44690.1.
CCDSiCCDS33312.1. [Q9NY46-3]
CCDS46440.1. [Q9NY46-2]
PIRiA54937.
RefSeqiNP_001075145.1. NM_001081676.1. [Q9NY46-4]
NP_001075146.1. NM_001081677.1. [Q9NY46-2]
NP_008853.3. NM_006922.3. [Q9NY46-3]
XP_011509912.1. XM_011511610.2. [Q9NY46-3]
XP_016860149.1. XM_017004660.1. [Q9NY46-1]
UniGeneiHs.435274.

3D structure databases

ProteinModelPortaliQ9NY46.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112233. 6 interactors.
IntActiQ9NY46. 2 interactors.
MINTiMINT-8330038.
STRINGi9606.ENSP00000283254.

Chemistry databases

BindingDBiQ9NY46.
ChEMBLiCHEMBL5163.
DrugBankiDB06218. Lacosamide.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi580.

PTM databases

iPTMnetiQ9NY46.
PhosphoSitePlusiQ9NY46.

Polymorphism and mutation databases

BioMutaiSCN3A.
DMDMi25014054.

Proteomic databases

PaxDbiQ9NY46.
PeptideAtlasiQ9NY46.
PRIDEiQ9NY46.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283254; ENSP00000283254; ENSG00000153253. [Q9NY46-3]
ENST00000360093; ENSP00000353206; ENSG00000153253. [Q9NY46-1]
ENST00000409101; ENSP00000386726; ENSG00000153253. [Q9NY46-2]
GeneIDi6328.
KEGGihsa:6328.
UCSCiuc002ucx.4. human. [Q9NY46-1]

Organism-specific databases

CTDi6328.
DisGeNETi6328.
GeneCardsiSCN3A.
HGNCiHGNC:10590. SCN3A.
HPAiHPA035396.
MIMi182391. gene.
neXtProtiNX_Q9NY46.
OpenTargetsiENSG00000153253.
PharmGKBiPA35005.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9NY46.
KOiK04836.
OMAiYFNGTMD.
OrthoDBiEOG091G00FK.
PhylomeDBiQ9NY46.
TreeFamiTF323985.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153253-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Miscellaneous databases

ChiTaRSiSCN3A. human.
GeneWikiiSCN3A.
GenomeRNAii6328.
PROiQ9NY46.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153253.
CleanExiHS_SCN3A.
ExpressionAtlasiQ9NY46. baseline and differential.
GenevisibleiQ9NY46. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSCN3A_HUMAN
AccessioniPrimary (citable) accession number: Q9NY46
Secondary accession number(s): Q16142
, Q53SX0, Q9BZB3, Q9C006, Q9NYK2, Q9P2J1, Q9UPD1, Q9Y6P4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 8, 2002
Last modified: November 2, 2016
This is version 159 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.